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Lisa G Shaffer

Showing results (171-180 of 215) with videos related to

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Molecular Cytogenetics|May 13, 2008
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplicationBlake C Ballif, Aaron Theisen, Justine Coppinger, et al.
Prenatal Diagnosis|June 22, 2011
The development of a rapid assay for prenatal testing of common aneuploidies and microdeletion syndromesLisa G Shaffer, Justine Coppinger, S Annie Morton, et al.
Nature Genetics|August 24, 2010
A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease riskFrancesca Antonacci, Jeffrey M Kidd, Tomas Marques-Bonet, et al.
European Journal of Medical Genetics|October 19, 2010
New cases and refinement of the critical region in the 1q41q42 microdeletion syndromeJill A Rosenfeld, Yves Lacassie, Dima El-Khechen, et al.
American Journal of Human Genetics|April 1, 2005
Microduplication and triplication of 22q11.2: a highly variable syndromeTwila M Yobb, Martin J Somerville, Lionel Willatt, et al.
American Journal of Medical Genetics. Part A|July 12, 2011
Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypesJill A Rosenfeld, Joanne Milisa Drautz, Carol L Clericuzio, et al.
Molecular Cytogenetics|November 18, 2011
Evaluation of chronic lymphocytic leukemia by oligonucleotide-based microarray analysis uncovers novel aberrations not detected by FISH or cytogenetic analysisKathryn A Kolquist, Roger A Schultz, Marilyn L Slovak, et al.
Nature Genetics|October 20, 2014
Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instabilityFrancesca Antonacci, Megan Y Dennis, John Huddleston, et al.
European Journal of Human Genetics : EJHG|June 23, 2011
Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic functionAlex R Paciorkowski, Liu Lin Thio, Jill A Rosenfeld, et al.
Human Genetics|January 29, 2013
Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palateAmelia M Lindgren, Tatiana Hoyos, Michael E Talkowski, et al.
Pageof 22

Showing results (171-180 of 215) with videos related to

Sort By:
Pageof 22
Molecular Cytogenetics|May 13, 2008
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplicationBlake C Ballif, Aaron Theisen, Justine Coppinger, et al.
Prenatal Diagnosis|June 22, 2011
The development of a rapid assay for prenatal testing of common aneuploidies and microdeletion syndromesLisa G Shaffer, Justine Coppinger, S Annie Morton, et al.
Nature Genetics|August 24, 2010
A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease riskFrancesca Antonacci, Jeffrey M Kidd, Tomas Marques-Bonet, et al.
European Journal of Medical Genetics|October 19, 2010
New cases and refinement of the critical region in the 1q41q42 microdeletion syndromeJill A Rosenfeld, Yves Lacassie, Dima El-Khechen, et al.
American Journal of Human Genetics|April 1, 2005
Microduplication and triplication of 22q11.2: a highly variable syndromeTwila M Yobb, Martin J Somerville, Lionel Willatt, et al.
American Journal of Medical Genetics. Part A|July 12, 2011
Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypesJill A Rosenfeld, Joanne Milisa Drautz, Carol L Clericuzio, et al.
Molecular Cytogenetics|November 18, 2011
Evaluation of chronic lymphocytic leukemia by oligonucleotide-based microarray analysis uncovers novel aberrations not detected by FISH or cytogenetic analysisKathryn A Kolquist, Roger A Schultz, Marilyn L Slovak, et al.
Nature Genetics|October 20, 2014
Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instabilityFrancesca Antonacci, Megan Y Dennis, John Huddleston, et al.
European Journal of Human Genetics : EJHG|June 23, 2011
Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic functionAlex R Paciorkowski, Liu Lin Thio, Jill A Rosenfeld, et al.
Human Genetics|January 29, 2013
Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palateAmelia M Lindgren, Tatiana Hoyos, Michael E Talkowski, et al.
Pageof 22